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Results for "FGFR3"
Variant Events: 13
Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
FGFR3
SP0142921
chr4:
1795721-1795721
C
T
exonic
De novo
synonymous SNV
NM_000142
NM_001163213
NM_022965
c.C60T
c.C60T
c.C60T
p.A20A
p.A20A
p.A20A
-
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
FGFR3
PN400287
chr4:
1808636-1808636
G
A
exonic
Unknown
nonsynonymous SNV
NM_022965
NM_000142
NM_001163213
c.G1913A
c.G2249A
c.G2255A
p.R638H
p.R750H
p.R752H
19.53
4.504E-5
Leblond2019
E
FGFR3
mAGRE4093
chr4:
1801537-1801541
CAGGT
C
exonic
Maternal
frameshift deletion
NM_000142
NM_001163213
NM_022965
c.444_445del
c.444_445del
c.444_445del
p.T148fs
p.T148fs
p.T148fs
-
7.759E-5
Cirnigliaro2023
G
FGFR3
Valentino2021:14
chr4:
1803571-1803571
C
G
exonic
De novo
nonsynonymous SNV
NM_000142
NM_001163213
NM_022965
c.C749G
c.C749G
c.C749G
p.P250R
p.P250R
p.P250R
16.65
-
Valentino2021
E
FGFR3
SP0076954
chr4:
1803571-1803571
C
G
exonic
De novo
nonsynonymous SNV
NM_000142
NM_001163213
NM_022965
c.C749G
c.C749G
c.C749G
p.P250R
p.P250R
p.P250R
16.65
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
FGFR3
GEA416
chr4:
1803571-1803571
C
G
exonic
De novo
nonsynonymous SNV
NM_000142
NM_001163213
NM_022965
c.C749G
c.C749G
c.C749G
p.P250R
p.P250R
p.P250R
16.65
-
Fu2022
E
FGFR3
SP0053359
chr4:
1806119-1806119
G
A
exonic
De novo
nonsynonymous SNV
NM_000142
NM_001163213
c.G1138A
c.G1144A
p.G380R
p.G382R
19.38
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
FGFR3
SP0077712
chr4:
1808468-1808468
T
G
intronic
De novo
-
-
Fu2022
E
FGFR3
Wang2023:718
chr4:
1807363-1807363
A
G
exonic
De novo
nonsynonymous SNV
NM_022965
NM_000142
NM_001163213
c.A1276G
c.A1612G
c.A1618G
p.I426V
p.I538V
p.I540V
12.92
8.313E-6
Wang2023
E
FGFR3
Hu2022:17
chr4:
1807288-1807288
G
A
exonic
Maternal
nonsynonymous SNV
NM_022965
NM_000142
NM_001163213
c.G1201A
c.G1537A
c.G1543A
p.D401N
p.D513N
p.D515N
12.09
5.012E-5
Hu2022
T
FGFR3
2-1764-003
chr4:
1808099-1808099
C
G
intronic
De novo
-
-
Trost2022
G
FGFR3
AU2463301
chr4:
1794336-1794336
G
A
upstream
De novo
-
-
Trost2022
G
FGFR3
SP0119569
chr4:
1807502-1807502
C
T
exonic
De novo
synonymous SNV
NM_022965
NM_000142
NM_001163213
c.C1335T
c.C1671T
c.C1677T
p.Y445Y
p.Y557Y
p.Y559Y
-
2.0E-4
Trost2022
G
Source Variant Information
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Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
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